Hereditary Congenital Severe Deafness Syndromes

Altmann F : Histologic picture of inherited nerve deafness in man and animals. Arch Otolaryng 51: 852–890, 1950.

Altmann F Hagen LE Jr : Congenital malformations of the ear. In: Medicine of the Ear. Fowler EP Jr (ed) New York, Nelson and Sons, 1939, p. 123.

Barr B Wedenberg E : Prognosis of perceptive hearing loss in children with respect to genesis and use of hearing aid. Acta Oto-laryng 59: 462–474, 1964.

Batsakis JG Nishiyama RH : Deafness with sporadic goiter. Arch Otolaryng 76: 401–406, 1962.

Capute AJ Rimoin DL Konigsmark BW : Congenital deafness and multiple lentigines. Arch Derm 100: 207–213, 1969.

Carraro DA : Assenza congenita della tibia e sordomutismo in quattro fratelli. Chir d org di movimento 16: 429–438, 1931.

Deraemaker R : Sex-linked congenital deafness. Acta Genet Statist Med 8: 228–231, 1958.

DiGeorge AM Olmsted RW Harley RD : Waardenburg's syndrome. J Pediat 57: 649–669, 1960.

Dow GS Poynter CI : The Dar family. Eugen News 15: 128–130, 1930.

Drummond M : A case of unusual skin disease. Irish J Med Sc 8: 85, 1939.

Everberg G : Etiology of unilateral total deafness. Ann Otol 69: 711–721, 1960.

Fay EA : Marriages of the deaf in America. Washington, Votla Bureau, 1898.

Fisch L : Deafness as part of an hereditary syndrome. J Laryng 73: 355–382, 1959.

Fraser GR : Personal communication, Seattle, 1962.

Fraser GR : Review article: Profound childhood deafness. J Med Genet 1: 118–151, 1964.

Fraser GR : Association of congenital deafness with goiter (Pendred's syndrome). Ann Hum Genet (Lond) 28: 201–249, 1965.

Fraser GR : Sex-linked recessive congenital deafness and the excess of males in profound childhood deafness. Ann Hum Genet 29: 171–196, 1965.

Fraser GR : The causes of deafness in childhood, a study of 3500 persons with profound hearing loss of early onset. Baltimore, The Johns Hopkins Press (In Press).

Fraser GR Froggatt P James TN : Congenital deafness associated with electrocardiographic abnormalities, fainting attacks and sudden death. Quart J Med 33: 361–385, 1964.

Fraser GR Froggat P Murphy T : Genetical aspects of the cardio-auditory syndrome of Jervell and Lange-Nielsen (congenital deafness and electrocardiographic abnormalities). Ann Hum Genet (Lond) 28: 133–157, 1964.

Friedmann I Fraser GR Froggatt P : Pathology of the ear in the cardioauditory syndrome of Jervell and Lange-Nielsen (recessive deafness with electrocardiographic abnormalities). J Laryng 80: 451–470, 1966.

Ghosh S : Waardenburg's syndrome. Ind J Child 11: 448–449, 1962.

Goldberg MF : Waardenburg's syndrome with fundus and other anomalies. Arch Ophthal 76: 797–810, 1966.

Gorlin RJ Anderson RC : Multiple lentigenes syndrome. Amer J Dis Child 117: 652–662, 1969.

Gray A A Nelson SH : The pathological conditions found in a case of deaf-mutism. J Laryng 41: 7–18, 1926.

Guli E Bonetti U : Contributo allo studio dell anatomia patologica del sordomutismo recessivo. Folio Hered et Path 5: 102–150, 1956.

Hammerschlag V : Einfuhrung in die Kenntnis einfucher Mendelistischer Vorgange, Perles, Vienna, 1934.

Hopkins LA Guilder RP : Clarke School studies concerning the heredity of deafness. Massachussetts, Edwards Brothers, Inc., 1949.

Hvidberg-Hansen J Jorgensen MB : The inner ear in Pendred's syndrome. Acta Otolaryng 66: 129–135, 1968.

Jervell A Lange-Nielsen F : Congenital deaf-mutism functional heart disease with prolongation of the QT interval, and sudden death. Amer Heart J 54: 59–68, 1957.

Jervell A Thingstad R Endsjo T : The surdo-cardiac syndrome. Amer Heart J 72: 582–593, 1966.

Klein D : Albinisme partiel (leucisme) avec surdi-mutite, blepharophimosis et dysplasie myo-ostéo-articulaire. Hered Paediat Acta 5: 38–58, 1950.

Kloepfer HW Laguaite JK McLaurin JW : The hereditary syndrome of congenital deafness and retinitis pigmentosa (Usher's syndrome). Laryngoscope 76: 850–862, 1966.

Koennecke W : Friedreichsche ataxie und taubstummheit. Z ges Neurol Psychiat 53: 161–165, 1920.

Konigsmark BW : Medical progress: Hereditary deafness in man. New Eng J Med 281: 713–720, 774–778, 827–832, 1969.

Konigsmark BW : Hereditary deafness syndromes with onset in adult life. Int Aud (In press).

Lehmann W : Ein weiterer beitrag zur frage der heterogenie der recessiven taubstummheit. Z menschl Vererb u Konstit lehre 29: 825–830, 1950.

Levine S Woodworth CR : Congenital deaf-mutism, prolonged QT interval, syncopal attacks and sudden death. New Eng J Med 259: 412–417, 1958.

Liebenam L : Beitrag zum familiären vorkommen von spalthänden und spalt-füssen. Z menschl Vererb u Konstitut lehre 22: 136, 1938.

Lindenov H : The Etiology of Deaf-Mutism with Special Reference to Heredity. Copenhagen, Munksgaard, 1945.

Lisker SA Finkelstein D : The cardio-auditory syndrome of Jervell and Lange-Nielson: Report of an additional case with radioelectrocardiographic monitoring during exercise. Amer J Med Sci 252: 458–464, 1966.

Marcus RE : Vestibular function and additional findings in Waardenburg's syndrome. Acta Oto-laryng Supp 229: 1–30, 1968.

Margolis E : A new hereditary syndrome — sex-linked deaf-mutism associated with total albinism. Acta Genet (Basel) 12: 12–19, 1962.

Matthews NL : Lentigo and electrocardiographic changes. New Eng J Med 278: 780–781, 1968.

Matthews WB : Familial ataxia, deaf-mutism and muscular wasting. J Neurol Neurosurg Psychiat 13: 307–311, 1950.

McKenzie J : The first arch syndrome. Arch Dis Child 33: 477–486, 1958.

McRae KN Uchida IA Lewis M : Sex-linked congenital deafness. Amer J Hum Genet 21:415–422, 1969.

Mende I : Über eine familie hereditär degenerativer taubstummer mit mongoloidem Einschlag und teilweisem leukismus der Haut und Haare. Arch Kinderhelik 79: 214–222, 1926.

Mengel MC Konigsmark BW Berlin CI : Recessive early-onset neural deafness. Acta Oto-laryng 64: 313–326, 1967.

Mengel MC Konigsmark BW Berlin CI : Conductive hearing loss and malformed low-set ears, as a possible recessive syndrome. J Med Genet 6: 14–21, 1969.

Mengel MC Konigsmark BW McKusick VA : Two types of congenital recessive deafness. EENT Monthly 48: 301–305, 1969.

Mitsuda H Inoue S Kazama Y : Eine familie mit rezessiv-geschlechtsgebundener taubstummheit. Jap J Genet 27: 142, 1952.

Mohr J Mageroy K : Sex-linked deafness of a possibly new type. Acta Genet Statist Med 10: 54–62, 1960.

Moynahan EJ : Multiple symmetrical moles, with psychic and somatic infantilism and genital hypoplasia: first male case of a new syndrome. Proc Roy Soc Med 55: 959–960, 1962.

Mühlmann WE : Ein ungewöhnlicher stammbaum über taubstummheit. Arch Rass u ges Biol 22: 181–183, 1930.

Müller E : Vestibularisstörungen bei erblicher taubheit. Arch Ohr Nas Kehlkopfheilk 142: 156–163, 1936.

Nager FR : Missbildungen der schnecke und hörvermögen. Zeitschr f Hals-, Nasen-Ohren-heilk 11: 149–176, 1925.

Nilsson LR Borgfors N Gamstorp I : Nonendemic goiter and deafness. Acta Ped 53: 117–131, 1964.

Nockemann PF : Erbliche hornhautverdickung mit schnürfurchen an fingern und zehen und innenohrschwerhörigkeit. Med Welt 37: 1894–1900, 1961.

Parker N : Congenital deafness due to a sex-linked hereditary deafness. Amer J Hum Genet 7: 201–203, 1955.

Partington MW : Waardenburg's syndrome and heterochromia iridum in a deaf school population. Canad Med Ass J 90: 1008–1017, 1964.

Pendred V : Deaf-mutism and goitre. Lancet 2: 532, 1896.

Peterson BH : Congenital deaf-mutism, pigmentary degeneration of the retina and dementia. M J Australia 2: 854–858, 1950.

Richards BW : Sex-linked deaf-mutism. Ann Hum Genet (Lond) 26: 195–199, 1963.

Richards BW Rundle AT : A familial hormonal disorder associated with mental deficiency, deaf mutism and ataxia. J Ment Defic Res 3: 33–55, 1959.

Sank D : Genetic aspects of early total deafness. In: Family and Mental Health Problems in a Deaf Population. Rainer JD Altshuler KZ Kallmann FJ (eds) New York, New York State Psychiatric Institute, 1963, p. 28–81.

Sataloff J Pastore PN Bloom E : Sex-linked hereditary deafness. Ann Hun Genet 7: 201–203, 1955.

Siebenmann Bing . Cited by Altmann F and Hagen LE, Jr.²

Smith AB : Unilateral hereditary deafness. Lancet 237: 1172–1173, 1939.

Stevenson AC Cheeseman EA : Hereditary deaf mutism, with particular reference to Northern Ireland. Ann Hum Genet 20: 177–231, 1956.

Sylvester PE : Some unusual findings in a family with Friedreich's ataxia. Arch Dis Child 33: 217–221, 1958.

Tietz W : A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance. Amer J Hum Genet 15: 259–264, 1963.

Usher CH : On the inheritance of retinitis pigmentosa. Roy Lond Ophth Hosp Rep 19-II: 130–236, 1914.

Vernon M : Usher's syndrome — deafness and progressive blindness. J Chron Dis 22: 133–151, 1969.

von Harnack GA Horst W Lenz W : Das erbliche syndrom: innenohrschwerhorigkeit und jodfehlverwertung mit kropf. Deut Med Wsch 86: 2421–2428, 1961.

Waardenburg PJ : A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Amer J Hum Genet 3: 196–252, 1951.

Walther RJ Polanksy BJ Grots IA : Electrocardiographic abnormalities in family with generalized lentigo. New Eng J Med 275: 1220–1225, 1966.

Wildervanck LS : Perceptive deafness associated with split-hand and -foot, a new syndrome?. Acta Genet (Basel) 13: 161–169, 1963.

Woolf CM Dolowitz DA Aldous HE : Congenital deafness associated with piebaldness. Arch Otolaryng 82: 244–250, 1965.

Ziprkowski L Krakowski A Adam A : Partial albinism and deaf mutism — due to a recessive sex-linked gene. Arch Derm 86: 530–539, 1962.